LOC128732306 melanoma risk locus-associated MPRA allelic enhancer 12:13075202 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC128732306
Gene description: melanoma risk locus-associated MPRA allelic enhancer 12:13075202
Gene type: biological region
Feature type(s): regulatory: enhancer, transcriptional_cis_regulatory_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This genomic region includes a genetic variant, rs2111398, that is in strong linkage disequilibrium with a melanoma risk locus identified at 12p13.1 in genome-wide association studies (GWASs), and for which the reference allele has a protective effect. A subregion was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in UACC903 melanoma cells, where strong differences in transcriptional activity were observed between the reference and alternative rs2111398 alleles. This region was additionally validated as a positively-acting cis-regulatory element for the GPRC5A (G protein-coupled receptor class C group 5 member A) gene by CRISPR interference in UACC903 melanoma cells. [provided by RefSeq, Feb 2023]
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Genomic context

Location:: chromosome: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (12922188..12922340)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (12795797..12795949)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

General gene information

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Other Names

CRISPRi-validated GPRC5A cis-regulatory element

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.